Learn About Von Gierke Disease

What is the definition of Von Gierke Disease?

Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it.

Von Gierke disease is also called Type I glycogen storage disease (GSD I).

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What are the alternative names for Von Gierke Disease?

Type I glycogen storage disease

What are the causes of Von Gierke Disease?

Von Gierke disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues. When glycogen is not broken down properly, it leads to low blood sugar.

Von Gierke disease is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.

What are the symptoms of Von Gierke Disease?

These are symptoms of von Gierke disease:

  • Constant hunger and need to eat often
  • Easy bruising and nosebleeds
  • Fatigue
  • Irritability
  • Puffy cheeks, thin chest and limbs, and swollen belly
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What are the current treatments for Von Gierke Disease?

The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.

In some children, a feeding tube is placed through their nose into the stomach throughout the night to provide sugars or uncooked cornstarch. The tube can be taken out each morning. Alternatively, a gastrostomy tube (G-tube) can be placed to deliver food directly to the stomach overnight.

A medicine to lower uric acid in the blood and decrease the risk for gout may be prescribed. Your provider may also prescribe medicines to treat kidney disease, high lipids, and to increase the cells that fight infection.

People with von Gierke disease cannot properly break down fruit or milk sugar. It is best to avoid these products.

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What are the support groups for Von Gierke Disease?

Association for Glycogen Storage Disease -- www.agsdus.org

What is the outlook (prognosis) for Von Gierke Disease?

With treatment, growth, puberty, and quality of life have improved for people with von Gierke disease. Those who are identified and carefully treated at a young age can live into adulthood.

Early treatment also decreases the rate of severe problems such as:

  • Gout
  • Kidney failure
  • Life-threatening low blood sugar
  • Liver tumors
What are the possible complications of Von Gierke Disease?

These complications can occur:

  • Frequent infection
  • Gout
  • Kidney failure
  • Liver tumors
  • Osteoporosis (thinning bones)
  • Seizures, lethargy, confusion due to low blood sugar
  • Short height
  • Underdeveloped secondary sexual characteristics (breasts, pubic hair)
  • Ulcers of the mouth or bowel
When should I contact a medical professional for Von Gierke Disease?

Call your provider if you have a family history of glycogen storage disease or early infant death due to low blood sugar.

How do I prevent Von Gierke Disease?

There is no simple way to prevent glycogen storage disease.

Couples who wish to have a baby may seek genetic counseling and testing to determine their risk for passing on von Gierke disease.

What are the latest Von Gierke Disease Clinical Trials?
A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

Summary: The primary objective of this study is to determine the long-term safety of DTX401 following a single intravenous (IV) dose in adults with GSDIa.

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Evaluation of Efficacy and Safety of Empagliflozin in Treatment of Neutropenia in Patients With Glycogenosis Ib

Summary: Treatment of neutropenia of Glycogenosis type 1b patients with empagliflozin

What are the Latest Advances for Von Gierke Disease?
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.
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Who are the sources who wrote this article ?

Published Date: May 02, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Taal MW, Skorecki K, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.

Kishnani PS, Chen Y-T. Defects in metabolism of carbohydrates. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 105.

Santos BL, Souza CF, Schuler-Faccini L, et al. Glycogen storage disease type 1: clinical and laboratory profile. J Pediatr (Rio J). 2014;90(6):572-579. PMID: 25019649 pubmed.ncbi.nlm.nih.gov/25019649/.